AATK apoptosis associated tyrosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: AATKprovided by HGNC
Official Full Name: apoptosis associated tyrosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:21
See related: Ensembl:ENSG00000181409 MIM:605276; AllianceGenome:HGNC:21
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LMR1; AATYK; LMTK1; p35BP; AATYK1; PPP1R77
Summary: The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Expression: Biased expression in brain (RPKM 12.1), duodenum (RPKM 7.0) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (81117295..81166221, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82025754..82074562, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79091095..79140021, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epigenetically silenced apoptosis-associated tyrosine kinase (AATK) facilitates a decreased expression of Cyclin D1 and WEE1, phosphorylates TP53 and reduces cell proliferation in a kinase-dependent manner.
Title: Epigenetically silenced apoptosis-associated tyrosine kinase (AATK) facilitates a decreased expression of Cyclin D1 and WEE1, phosphorylates TP53 and reduces cell proliferation in a kinase-dependent manner.
Lemur tail kinase 1 (LMTK1) regulates the endosomal localization of beta-secretase BACE1.
Title: Lemur tail kinase 1 (LMTK1) regulates the endosomal localization of β-secretase BACE1.
ATKK was validated as a target gene of miR-558, and upregulation of miR-558 was observed in radioresistant lung cancer cells. Additionally, ectopic overexpression of ATKK partially but significantly reduced the miR-558-induced radioresistance.
Title: Downregulation of AATK mediates microRNA-558-induced resistance of A549 cells to radiotherapy.
This paper deals with the mouse ortholog.
Title: Structural and functional analysis of the apoptosis-associated tyrosine kinase (AATYK) family.
Apoptosis-associated tyrosine kinase is a Cdk5 activator p35 binding protein.
Title: Apoptosis-associated tyrosine kinase is a Cdk5 activator p35 binding protein.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Messenger RNAs for three proteins AATK, SLC27A1, and CDKAL1 are preferentially secreted out in exosomes from HIV-1 Nef-expressing cells, and their targeting miRNAs (miR-32 and miR-93*) are retained in these cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serine/threonine-protein kinase LMTK1

Names: CDK5-binding protein; brain apoptosis-associated tyrosine kinase; lemur tyrosine kinase 1; p35-binding protein; protein phosphatase 1, regulatory subunit 77

NP_001073864.2

EC 2.7.11.1

NP_004911.2

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029981.1 RefSeqGene

Range

4852..53778

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080395.3 → NP_001073864.2 serine/threonine-protein kinase LMTK1 isoform 1

See identical proteins and their annotated locations for NP_001073864.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB014541, AC115099, AK131529, BI256809

Consensus CDS

CCDS45807.1

UniProtKB/Swiss-Prot

O75136, Q6ZMQ8, Q6ZN31, Q86X28

Related

ENSP00000324196.4, ENST00000326724.9

Conserved Domains (2) summary

smart00221
Location:128 → 395

STYKc; Protein kinase; unclassified specificity

cd05087
Location:127 → 397

PTKc_Aatyk1; Catalytic domain of the Protein Tyrosine Kinases, Apoptosis-associated tyrosine kinase 1
NM_004920.3 → NP_004911.2 serine/threonine-protein kinase LMTK1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AB014541, AC115099, AK131395, BI256809

Consensus CDS

CCDS58607.1

UniProtKB/TrEMBL

H7C175

Related

ENSP00000398796.1, ENST00000417379.6

Conserved Domains (2) summary

smart00221
Location:25 → 292

STYKc; Protein kinase; unclassified specificity

cd05087
Location:24 → 294

PTKc_Aatyk1; Catalytic domain of the Protein Tyrosine Kinases, Apoptosis-associated tyrosine kinase 1